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Comprehensive phenotype of the p.arg420his allelic form of spinocerebellar ataxia type 13

dc.contributor.authorSubramony, S H
dc.contributor.authorAdvincula, Joel
dc.contributor.authorPerlman, Susan
dc.contributor.authorRosales, Raymond L.
dc.contributor.authorLee, Lillian V.
dc.contributor.authorAshizawa, Tetsuo
dc.contributor.authorWaters, Michael F.
dc.date.accessioned2024-04-25T06:05:02Z
dc.date.available2024-04-25T06:05:02Z
dc.date.issued2013-08-03
dc.identifier.citationSubramony, S., Advincula, J., Perlman, S. et al. Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13. Cerebellum 12, 932–936 (2013). https://doi.org/10.1007/s12311-013-0507-6.en
dc.identifier.issn1473-4222
dc.identifier.urihttps://hdl.handle.net/20.500.14353/360
dc.description.abstractThe p.Arg420H is allelic form of spinocerebellar ataxia type 13 has been reported in a large Filipino kindred, as well as three European index cases, one with an affected offspring. Haplotype analysis has confirmed independent mutational events. All individuals share adult-onset, predominantly cerebellar signs and a slowly progressive course. However, a comprehensive phenotypic description has yet to be published on SCA13p.Arg420His. In this study, we present the results of a detailed neurological clinical and diagnostic testing on 21 mutation-positive members of a four-generation Filipino family to further define this disease, aiding diagnosis and prognosis.en
dc.language.isoenen
dc.publisherSPRINGERen
dc.relation.urien
dc.subjectAtaxiaen
dc.subjectNeurodegenerationen
dc.subjectNeurogeneticsen
dc.subjectSpinocerebellar ataxia type 13en
dc.subjectVoltage-gated potassium channelen
dc.subjectAtaxic syndromeen
dc.subjectCognitive assessmenten
dc.subjectKCNC3 codingen
dc.subjectp.Phe448Lysen
dc.subjectp.Arg420en
dc.subjectDevelopmental phenotypeen
dc.subjectNeurodegenerative phenotypeen
dc.subject.lcshCerebellar ataxiaen
dc.subject.lcshPhenotypeen
dc.subject.lcshEpilepsyen
dc.subject.lcshIntellectual disabilityen
dc.subject.lcshAtaxiaen
dc.subject.lcshArticulation disordersen
dc.subject.lcshNeural conductionen
dc.subject.lcshcerebralen
dc.subject.meshSpinocerebellar Ataxiasen
dc.subject.meshAtaxiaen
dc.subject.meshMutationen
dc.subject.meshCerebellar Ataxiaen
dc.subject.meshDysarthriaen
dc.subject.meshAllelesen
dc.subject.meshNerve Conduction Studiesen
dc.titleComprehensive phenotype of the p.arg420his allelic form of spinocerebellar ataxia type 13en
dc.typeArticleen
dcterms.accessRightsOpen accessen
dc.citation.journaltitleCerebellumen
dc.citation.volume12en
dc.citation.issue6en
dc.citation.firstpage932en
dc.citation.lastpage936en
dc.identifier.doi10.1007/s12311-013-0507-6
local.isIndexedByScopusen


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